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Protein-coding gene in the species Homo sapiens

RFXAP

RFXAP
All data from the card 18
Aliases
RFXAP, regulatory factor X associated protein
External IDs
OMIM: 601861; MGI: 2180854; GeneCards: RFXAP
PDB
Ortholog search: PDBe RCSB
Chr.
Chromosome 13 (human)
Band
13q13.3
End
36,829,104 bp
Chr.
Chromosome 3 (mouse)
Band
3|3 C
End
54,715,212 bp
BioGPS
More reference expression data
Databases
NCBI: entry; OMA: entry
Species
Human
Entrez
5994
Ensembl
ENSG00000133111
UniProt
O00287
RefSeq (mRNA)
NM_000538
RefSeq (protein)
NP_000529
Location (UCSC)
Chr 13: 36.82 – 36.83 Mb

Regulatory factor X-associated protein is a protein that in humans is encoded by the RFXAP gene.

Major histocompatibility (MHC) class II molecules are transmembrane proteins that have a central role in development and control of the immune system. The protein encoded by this gene, along with regulatory factor X-associated ankyrin-containing protein and regulatory factor-5, forms a complex that binds to the X box motif of certain MHC class II gene promoters and activates their transcription. Once bound to the promoter, this complex associates with the non-DNA-binding factor MHC class II transactivator, which controls the cell type specificity and inducibility of MHC class II gene expression. Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group D. Transcript variants utilizing different polyA signals have been found for this gene.

Interactions

RFXAP has been shown to interact with RFXANK.

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Text from Wikipedia, CC BY-SA 4.0 · Source article